ADD3

Cilia effects upon perturbation of ADD3

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (6 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.80, ciliated=59.0%) PMID:26595381
• Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=4.89) PMID:20393562
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.77) PMID:41160700

Ciliopathy associations

• Biliary Atresia

Subcellular localization

cilia associated gene, plasma membrane

Functional category

• Metabolism

Function

ADD3 knockout organoids displayed defective cholangiocyte differentiation, failure in the recruitment of βII-spectrin to the cell membrane, abnormal primary cilia development, reduced expression of tight junction proteins, lower transepithelial electrical resistance (TEER) and increased paracellular permeability. Statistical significantly reduced tight junction (TJ) proteins expression and lower TEER in Add3+/- and Add3-/- liver tissue-derived cholangiocytes were observed. Reduced number of TJs and enlarged paracellular spaces without any detectable TJ were detected in the intra-hepatic bile ducts of Add3+/- and Add3-/- livers. A statistical significantly higher incidence and a more advanced form of BA with statistical significantly higher serum bilirubin, liver necrosis and fibrosis, and accumulation of macrophages and activated hepatic stellate cells were observed in Add3 knockout BA mice as compared to wild-type BA mice. (41297070)

Model organism evidence